Familial cerebral small vessel disease
Gene: TREX1Comment when marking as ready: Associated with phenotype in G2P. 3 variants reported in this phenotypeCreated: 4 Jul 2016, 2:44 p.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE StudyCreated: 4 Jul 2016, 2:43 p.m.
Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL) is an autosomal dominant form of cerebral small vessel disease, previously described as different overlapping syndromes: cerebroretinal vasculopathy (CRV), hereditary endothelopathy, retinopathy, nephropathy and stroke (HERNS) and hereditary vascular retinopathy (HVR).
Frameshift mutations in the carboxyl-terminus of the TREX1 gene have been reported to cause RVCL. These mutations lead to a truncated C-terminus of DNAse III, leading to cellular mislocalization (rather than loss of activity) of the enzyme.
Loss-of-function mutations in TREX1 which decrease DNAse III enzyme activity have also been reported to be associated with the disease.
Created: 22 Jun 2016, 3:25 p.m.
Cerebral small vessel disease; Aicardi-Goutières syndrome; retinal vasculopathy with cerebral leukodystrophy; cerebroretinal vasculopathy; hereditary endotheliopathy, retinopathy, nephropathy and stroke; stroke, hereditary vascular retinopathy; retinopathy; nephropathyCreated: 22 Jun 2016, 3:25 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
retinal vasculopathy with cerebral leukodystrophy; cerebroretinal vasculopathy; hereditary endotheliopathy, retinopathy, nephropathy and stroke; stroke, hereditary vascular retinopathy; retinopathy; nephropathy
Publications
Phenotypes for TREX1 were set to retinal vasculopathy with cerebral leukodystrophy; cerebroretinal vasculopathy; hereditary endotheliopathy, retinopathy, nephropathy and stroke; stroke, hereditary vascular retinopathy; retinopathy; nephropathy; Aicardi-Goutieres syndrome 1, dominant and recessive 225750 AR, AD; Vasculopathy, retinal, with cerebral leukodystrophy 192315 AD
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for TREX1 were set to retinal vasculopathy with cerebral leukodystrophy; cerebroretinal vasculopathy; hereditary endotheliopathy, retinopathy, nephropathy and stroke; stroke, hereditary vascular retinopathy; retinopathy; nephropathy; Aicardi-Goutieres syndrome 1, dominant and recessive 225750 AR, AD; Vasculopathy, retinal, with cerebral leukodystrophy 192315 AD
Mode of inheritance for TREX1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for TREX1 were set to 18204807; 12525718; 17660820; 23881107; 16845398
TREX1 was added to Familial cerebral small vessel diseasepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
TREX1 was added to Familial cerebral small vessel diseasepanel. Sources: Literature
TREX1 was created by rheatan